OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
about
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesRegulation of centriolar satellite integrity and its physiologyFifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Basal body positioning and anchoring in the multiciliated cell Paramecium tetraurelia: roles of OFD1 and VFL3.Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
P2860
Q38628629-CD035703-BDA4-40FF-8D48-C3590DFE6D84Q38916274-E714D5DB-A246-462A-8DD8-6B2B4E153BBEQ39176592-3EF97301-598D-4B91-AE98-36C7D1E2E038Q41856147-AFAB2358-D536-450A-98C0-E4B4F5C9DEEEQ45051514-C302A267-0B8E-4840-85AC-EA54E6BB6D9BQ46904962-8CF98569-4C38-41E2-9744-BF6F1429C86DQ47969195-F4ADD3AF-76D9-41A0-AF8A-BF373CB508FA
P2860
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
OFIP/KIAA0753 forms a complex ...... oral-facial-digital syndrome.
@en
type
label
OFIP/KIAA0753 forms a complex ...... oral-facial-digital syndrome.
@en
prefLabel
OFIP/KIAA0753 forms a complex ...... oral-facial-digital syndrome.
@en
P2093
P2860
P50
P356
P1476
OFIP/KIAA0753 forms a complex ...... h oral-facial-digital syndrome
@en
P2093
Ange-Line Bruel
Angélique Bole
Christel Thauvin-Robinet
Daniel Isnardon
Emilie Baudelet
Frédérique Lembo
Jean-Baptiste Rivière
Julien Thevenon
Laurence Faivre
Lydie Burglen
P2860
P304
P356
10.1093/HMG/DDV488
P577
2015-12-07T00:00:00Z